Variabilidad genética, estrés oxidativo e inflamación en poblaciones colombianas
Resumen
Introducción. El estrés oxidativo y la inflamación son procesos biológicos estrechamente relacionados con el desarrollo de enfermedades inflamatorias crónicas.
Objetivo. Identificar los componentes de la ascendencia genética y los haplogrupos mitocondriales de individuos provenientes de diferentes regiones de Colombia, y comparar la frecuencia relativa de variantes genéticas involucradas en la respuesta al estrés oxidativo y la inflamación.
Materiales y métodos. Se realizó un análisis de genómica estructural en cinco genomas y 58 exomas de individuos de diversas regiones de Colombia. Se evaluaron los componentes de la ascendencia genética y se determinaron los haplogrupos mitocondriales mediante marcadores moleculares específicos. Se compararon las frecuencias de variantes genéticas relacionadas con el estrés oxidativo y la inflamación.
Resultados. Se identificaron dos grupos principales: uno con un componente de ascendencia predominantemente africano con haplogrupos mitocondriales L1, L2, L3, B2 y D1; y otro, con un componente de ascendencia mayormente europeo y asiático oriental, con haplogrupos mitocondriales H2, U2, B2, A2, C, D1 y D4. Los individuos no afrocolombianos mostraron una mayor frecuencia de las variantes rs2458236 en el gen de la oxidasa dual 1 (DUOX1), rs2536512 en la superóxido dismutasa 3 (SOD3), rs4073 en la interleucina 8 (IL-8), y rs1143627 y rs1143634 en la interleucina 1 beta (IL-1β).
Conclusión. Este estudio reveló diferencias en las frecuencias alélicas variantes moleculares en genes de respuesta al estrés oxidativo y la inflamación, las cuales están asociadas con los componentes principales de ascendencia genética de los individuos evaluados.
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Datos de los fondos
-
Universidad del Valle
Números de la subvención CI 71215 -
National Institutes of Health
Números de la subvención R01 NS110122
